Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing
© 2018 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd..
Whole-exome sequencing is a new technology. We used it to explore the gene responsible for early-onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188-31G>A mutation in the proband - a 43-year-old woman. The mutation was also identified in her two daughters with diabetes, but not in her son or her parents, all of whom did not have diabetes. The substitution was located 31 bp proximal to exon 3 in intron 2. It was predicted to create an ectopic splice site leading to inserting 29 nucleotides of intron 2 as an exonic sequence in the transcript. The mutation has been reported in White families, and the present case is the first report in an Asian person. The present results would help in understanding the role of the mutation in developing diabetes.
Medienart: |
E-Artikel |
---|
Erscheinungsjahr: |
2019 |
---|---|
Erschienen: |
2019 |
Enthalten in: |
Zur Gesamtaufnahme - volume:10 |
---|---|
Enthalten in: |
Journal of diabetes investigation - 10(2019), 4 vom: 14. Juli, Seite 947-950 |
Sprache: |
Englisch |
---|
Beteiligte Personen: |
Matsuno, Shohei [VerfasserIn] |
---|
Links: |
---|
Themen: |
Biomarkers |
---|
Anmerkungen: |
Date Completed 13.01.2020 Date Revised 12.10.2023 published: Print-Electronic Citation Status MEDLINE |
---|
doi: |
10.1111/jdi.12974 |
---|
funding: |
|
---|---|
Förderinstitution / Projekttitel: |
|
PPN (Katalog-ID): |
NLM290469724 |
---|
LEADER | 01000naa a22002652 4500 | ||
---|---|---|---|
001 | NLM290469724 | ||
003 | DE-627 | ||
005 | 20231225064813.0 | ||
007 | cr uuu---uuuuu | ||
008 | 231225s2019 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.1111/jdi.12974 |2 doi | |
028 | 5 | 2 | |a pubmed24n0968.xml |
035 | |a (DE-627)NLM290469724 | ||
035 | |a (NLM)30414308 | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
100 | 1 | |a Matsuno, Shohei |e verfasserin |4 aut | |
245 | 1 | 0 | |a Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing |
264 | 1 | |c 2019 | |
336 | |a Text |b txt |2 rdacontent | ||
337 | |a ƒaComputermedien |b c |2 rdamedia | ||
338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
500 | |a Date Completed 13.01.2020 | ||
500 | |a Date Revised 12.10.2023 | ||
500 | |a published: Print-Electronic | ||
500 | |a Citation Status MEDLINE | ||
520 | |a © 2018 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd. | ||
520 | |a Whole-exome sequencing is a new technology. We used it to explore the gene responsible for early-onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188-31G>A mutation in the proband - a 43-year-old woman. The mutation was also identified in her two daughters with diabetes, but not in her son or her parents, all of whom did not have diabetes. The substitution was located 31 bp proximal to exon 3 in intron 2. It was predicted to create an ectopic splice site leading to inserting 29 nucleotides of intron 2 as an exonic sequence in the transcript. The mutation has been reported in White families, and the present case is the first report in an Asian person. The present results would help in understanding the role of the mutation in developing diabetes | ||
650 | 4 | |a Journal Article | |
650 | 4 | |a Early-onset diabetes | |
650 | 4 | |a Insulin gene | |
650 | 4 | |a Mutation | |
650 | 7 | |a Biomarkers |2 NLM | |
650 | 7 | |a Insulins |2 NLM | |
700 | 1 | |a Furuta, Hiroto |e verfasserin |4 aut | |
700 | 1 | |a Kosaka, Kitaro |e verfasserin |4 aut | |
700 | 1 | |a Doi, Asako |e verfasserin |4 aut | |
700 | 1 | |a Yorifuji, Tohru |e verfasserin |4 aut | |
700 | 1 | |a Fukuda, Takuya |e verfasserin |4 aut | |
700 | 1 | |a Senmaru, Takafumi |e verfasserin |4 aut | |
700 | 1 | |a Uraki, Shinsuke |e verfasserin |4 aut | |
700 | 1 | |a Matsutani, Norihiko |e verfasserin |4 aut | |
700 | 1 | |a Furuta, Machi |e verfasserin |4 aut | |
700 | 1 | |a Mishima, Hiroyuki |e verfasserin |4 aut | |
700 | 1 | |a Iwakura, Hiroshi |e verfasserin |4 aut | |
700 | 1 | |a Nishi, Masahiro |e verfasserin |4 aut | |
700 | 1 | |a Yoshiura, Kohichiro |e verfasserin |4 aut | |
700 | 1 | |a Fukui, Michiaki |e verfasserin |4 aut | |
700 | 1 | |a Akamizu, Takashi |e verfasserin |4 aut | |
773 | 0 | 8 | |i Enthalten in |t Journal of diabetes investigation |d 2010 |g 10(2019), 4 vom: 14. Juli, Seite 947-950 |w (DE-627)NLM21944952X |x 2040-1124 |7 nnns |
773 | 1 | 8 | |g volume:10 |g year:2019 |g number:4 |g day:14 |g month:07 |g pages:947-950 |
856 | 4 | 0 | |u http://dx.doi.org/10.1111/jdi.12974 |3 Volltext |
912 | |a GBV_USEFLAG_A | ||
912 | |a GBV_NLM | ||
951 | |a AR | ||
952 | |d 10 |j 2019 |e 4 |b 14 |c 07 |h 947-950 |